Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion

Irene Bottillo, Isabella Torrente, Valentina Lanari, Valentina Pinna, Sandra Giustini, Luigina Divona, Alessandro De Luca, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


We report on the clinical and molecular features of a family in which neurofibromatosis type 1 (NF1) occurred in two of three siblings born to unaffected parents and in one granddaughter. Linkage analysis showed that the two affected siblings and the daughter of one of them shared the same paternal allele, whereas they had inherited different maternal alleles. We detected a disease-causing deletion(c.4773-3622-?-5749+?del) encompassing three NF1 gene exons in affected individuals. This mutation occurred on the paternally derived allele, arguing for a germline mosaicism in the probands' father. Real-time PCR showed that the mutation was present in about 10-17% of the paternal sperms. Current results confirm that germline mosaicism can explain the recurrence of NF1 in offspring of unaffected parents.

Original languageEnglish
Pages (from-to)1467-1473
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number6
Publication statusPublished - Jun 2010


  • Germline mosaicism
  • Neurofibromatosis type 1 (NF1)
  • Real time PCR

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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